Recent advances in the management of Duchenne muscular dystrophy
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Book Review
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Published in Neuromuscular disorders : NMD (01.08.2018)
Published in Neuromuscular disorders : NMD (01.08.2018)
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Conference Proceeding
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
Becker Lena-Luise, Salimi, Dafsari Hormos, Schallner Jens, Abdin Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok Levinus, Rodan Lance, Krapels Ingrid, Spranger, Stephanie, Weschke Bernhard, Johnson, Katherine, Straub Volker, Kaindl, Angela M, Di Donato Nataliya, von der Hagen Maja, Cirak Sebahattin
Published in Journal of human genetics (01.11.2020)
Published in Journal of human genetics (01.11.2020)
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Cognitive impairment appears progressive in the mdx mouse
Bagdatlioglu, Emine, Porcari, Paola, Greally, Elizabeth, Blamire, Andrew M., Straub, Volker W.
Published in Neuromuscular disorders : NMD (01.05.2020)
Published in Neuromuscular disorders : NMD (01.05.2020)
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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
Cirak, Sebahattin, MD, Arechavala-Gomeza, Virginia, PhD, Guglieri, Michela, MD, Feng, Lucy, PhD, Torelli, Silvia, PhD, Anthony, Karen, PhD, Abbs, Stephen, PhD, Garralda, Maria Elena, Prof, Bourke, John, MD, Wells, Dominic J, Prof, Dickson, George, Prof, Wood, Matthew JA, MD PhD, Wilton, Steve D, Prof, Straub, Volker, Prof, Kole, Ryszard, Prof, Shrewsbury, Stephen B, MD, Sewry, Caroline, Prof, Morgan, Jennifer E, PhD, Bushby, Kate, Prof, Muntoni, Francesco, Prof
Published in The Lancet (British edition) (13.08.2011)
Published in The Lancet (British edition) (13.08.2011)
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Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
Voit, Thomas, Prof, Topaloglu, Haluk, Prof, Straub, Volker, Prof, Muntoni, Francesco, Prof, Deconinck, Nicolas, MD, Campion, Giles, MD, De Kimpe, Sjef J, PhD, Eagle, Michelle, PhD, Guglieri, Michela, MD, Hood, Steve, PhD, Liefaard, Lia, PhD, Lourbakos, Afrodite, PhD, Morgan, Allison, BSc, Nakielny, Joanna, MB, Quarcoo, Naashika, PhD, Ricotti, Valeria, MB, Rolfe, Katie, MSc, Servais, Laurent, MD, Wardell, Claire, DPhil, Wilson, Rosamund, PhD, Wright, Padraig, MD, Kraus, John E, MD
Published in Lancet neurology (01.10.2014)
Published in Lancet neurology (01.10.2014)
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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdú-Díaz, José, Alonso-Pérez, Jorge, Nuñez-Peralta, Claudia, Tasca, Giorgio, Vissing, John, Straub, Volker, Fernández-Torrón, Roberto, Llauger, Jaume, Illa, Isabel, Díaz-Manera, Jordi
Published in Neurology (10.03.2020)
Published in Neurology (10.03.2020)
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Journal Article
Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy
Blain, Alison M, Greally, Elizabeth, McClorey, Graham, Manzano, Raquel, Betts, Corinne A, Godfrey, Caroline, O'Donovan, Liz, Coursindel, Thibault, Gait, Mike J, Wood, Matthew J, MacGowan, Guy A, Straub, Volker W
Published in PloS one (18.06.2018)
Published in PloS one (18.06.2018)
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Journal Article
Short stature and pubertal delay in Duchenne muscular dystrophy
Wood, Claire L, Straub, Volker, Guglieri, Michela, Bushby, Kate, Cheetham, Tim
Published in Archives of Disease in Childhood (01.01.2016)
Published in Archives of Disease in Childhood (01.01.2016)
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Journal Article
Book Review
Quantifying the burden of caregiving in Duchenne muscular dystrophy
Landfeldt, Erik, Lindgren, Peter, Bell, Christopher F., Guglieri, Michela, Straub, Volker, Lochmüller, Hanns, Bushby, Katharine
Published in Journal of neurology (01.05.2016)
Published in Journal of neurology (01.05.2016)
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Journal Article
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., Carlier, Robert Y.
Published in Journal of neurology (2020)
Published in Journal of neurology (2020)
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Journal Article
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Kinali, Maria, MD, Arechavala-Gomeza, Virginia, PhD, Feng, Lucy, PhD, Cirak, Sebahattin, MD, Hunt, David, FRCS, Adkin, Carl, PhD, Guglieri, Michela, MD, Ashton, Emma, PhD, Abbs, Stephen, PhD, Nihoyannopoulos, Petros, MD, Garralda, Maria Elena, MD, Rutherford, Mary, MD, Mcculley, Caroline, PhD, Popplewell, Linda, PhD, Graham, Ian R, PhD, Dickson, George, PhD, Wood, Matthew JA, MD, Wells, Dominic J, PhD, Wilton, Steve D, PhD, Kole, Ryszard, PhD, Straub, Volker, MD, Bushby, Kate, MD, Sewry, Caroline, PhD, Morgan, Jennifer E, PhD, Muntoni, Francesco, MD
Published in Lancet neurology (01.10.2009)
Published in Lancet neurology (01.10.2009)
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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
Rajab, Anna, Straub, Volker, McCann, Liza J, Seelow, Dominik, Varon, Raymonda, Barresi, Rita, Schulze, Anne, Lucke, Barbara, Lützkendorf, Susanne, Karbasiyan, Mohsen, Bachmann, Sebastian, Spuler, Simone, Schuelke, Markus
Published in PLoS genetics (01.03.2010)
Published in PLoS genetics (01.03.2010)
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Journal Article
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
Segarra-Casas, Alba, Yépez, Vicente A., Demidov, German, Laurie, Steven, Esteve-Codina, Anna, Gagneur, Julien, Parkhurst, Yolande, Muni-Lofra, Robert, Harris, Elizabeth, Marini-Bettolo, Chiara, Straub, Volker, Töpf, Ana
Published in International journal of molecular sciences (16.07.2024)
Published in International journal of molecular sciences (16.07.2024)
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Journal Article
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.09.2017)
Published in Neuromuscular disorders : NMD (01.09.2017)
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Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
Willis, Tracey A, Hollingsworth, Kieren G, Coombs, Anna, Sveen, Marie-Louise, Andersen, Søren, Stojkovic, Tanya, Eagle, Michelle, Mayhew, Anna, de Sousa, Paulo L, Dewar, Liz, Morrow, Jasper M, Sinclair, Christopher D J, Thornton, John S, Bushby, Kate, Lochmüller, Hanns, Hanna, Michael G, Hogrel, Jean-Yves, Carlier, Pierre G, Vissing, John, Straub, Volker
Published in PloS one (14.08.2013)
Published in PloS one (14.08.2013)
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Journal Article
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Hogrel, Jean-Yves, Decostre, Valérie, Ledoux, Isabelle, de Antonio, Marie, Niks, Erik H., de Groot, Imelda, Straub, Volker, Muntoni, Francesco, Ricotti, Valeria, Voit, Thomas, Seferian, Andreea, Gidaro, Teresa, Servais, Laurent
Published in Journal of neurology (01.07.2020)
Published in Journal of neurology (01.07.2020)
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Journal Article
Web Resource
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy
Straub, Volker, MD, Balabanov, Pavel, PhD, Bushby, Kate, MD, Ensini, Monica, PhD, Goemans, Nathalie, MD, De Luca, Annamaria, PhD, Pereda, Alejandra, Hemmings, Robert, Campion, Giles, MD, Kaye, Edward, MD, Arechavala-Gomeza, Virginia, PhD, Goyenvalle, Aurelie, PhD, Niks, Erik, MD, Veldhuizen, Olav, Furlong, Pat, Stoyanova-Beninska, Violeta, MD, Wood, Matthew J, PhD, Johnson, Alex, Mercuri, Eugenio, MD, Muntoni, Francesco, MD, Sepodes, Bruno, PhD, Haas, Manuel, PharmD, Vroom, Elizabeth, DMD, Aartsma-Rus, Annemieke, Dr
Published in Lancet neurology (01.07.2016)
Published in Lancet neurology (01.07.2016)
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Journal Article
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
Zou, Yaqun, Zwolanek, Daniela, Izu, Yayoi, Gandhy, Shreya, Schreiber, Gudrun, Brockmann, Knut, Devoto, Marcella, Tian, Zuozhen, Hu, Ying, Veit, Guido, Meier, Markus, Stetefeld, Jörg, Hicks, Debbie, Straub, Volker, Voermans, Nicol C, Birk, David E, Barton, Elisabeth R, Koch, Manuel, Bönnemann, Carsten G
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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